湖北地区汉族健康人群CD14启动子T-260C位点基因多态性与血脂关系的研究

目的研究湖北地区汉族健康人群脂多糖受体(CD14)启动子T260C位点多态性分布及其对血脂的影响。方法采用聚合酶链反应和限制性片段长度多态性(PCRRFLP)方法检测152名湖北地区汉族健康人群CD14启动子(-260)位点3种基因型分布,同时检测血脂水平并探讨二者相关性。结果湖北地区汉族健康人群CD14启动子-260位点存在T/C多态性,TC杂合子占44.7%、TT野生型纯合子占28.3%、CC突变型纯合子占27.0%;3种基因型间比较,TT基因型血浆高密度脂蛋白水平明显低于CC基因型(P<0.05),而总胆固醇、甘油三脂、低密度脂蛋白、体重指数等指标在3种基因型间差异无显著性(P>0.05)。结论湖北地区汉族健康人群CD14启动子-260位点存在T/C多态性,TT基因型可明显影响血浆高密度脂蛋白水平。

Distribution of -260C/T single nucleotide polymorphisms (SNP) in the promoter region of CD14 gene and its significance for plasma lipids levels in Chinese Han population of Hubei

Objective To investigate the distribution of -260C/T single nucleotide polymorphisms (SNP) in the promoter region of CD14 gene and its relation to plasma lipid levels in normal Chinese Han population of Hubei.Methods The three genotypes of -260C/T polymorphisms in the promoter region of the CD14 gene were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 152 normal Chinese Han population.Results -260C/T SNP was present in normal Han population of Hubei,and the frequency of each genotype was TC 44.7%,TT 28.3% and CC 27.0% respectively.The individuals with the TT genotype had a lower plasma high-density lipoprotein cholesterol (HDL-C) level than those with the CC genotype (P<0.05).No association was found between the genotypes and plasma levels of total cholesterol,triglyceride,low-density lipoprotein and body mass index.Conclusion The TT genotype significantly influences the plasma levels of HDL-C in normal Chinese Han individuals.